Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles

Congenital disorders of glycosylation (CDG), inherited metabolic diseases caused by defects in glycosylation, are characterized by a high frequency of intellectual disability (ID) and various clinical manifestations. Two siblings with ID, dysmorphic features, and epilepsy were examined using mass sp...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Nobuhiko Okamoto, Tatsuyuki Ohto, Takashi Enokizono, Yoshinao Wada, Tomohiro Kohmoto, Issei Imoto, Yoshimi Haga, Junichi Seino, Tadashi Suzuki
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
Acceso en línea:https://doaj.org/article/d8762ed4b28945f98a16c4990c2bea59
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!